SOX5

SOX5
Identifiers
Aliases	SOX5 , L-L-SOX5B, L-SOX5F, LAMSHF, SRY-box 5, SRY-box transcription factor 5
External IDs	OMIM: 604975 MGI: 98367 HomoloGene: 21378 GeneCards: SOX5
Gene location (Human) Chr. Chromosome 12 (human) [1] Band 12p12.1 Start 23,529,504 bp [1] End 24,562,544 bp [1]
Gene location (Mouse) Chr. Chromosome 6 (mouse) [2] Band 6 G3|6 76.14 cM Start 143,828,425 bp [2] End 144,781,977 bp [2]
RNA expression pattern Bgee Top expressed in cerebral cortex tendon neocortex tibia sural nerve Achilles tendon synovial joint lung More reference expression data BioGPS More reference expression data
Gene ontology Molecular function GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity DNA binding GO:0001948 protein binding GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process cellular response to transforming growth factor beta stimulus regulation of transcription, DNA-templated transcription by RNA polymerase II positive regulation of cartilage development positive regulation of chondrocyte differentiation positive regulation of mesenchymal stem cell differentiation transcription, DNA-templated asymmetric neuroblast division regulation of transcription by RNA polymerase II cell fate commitment negative regulation of transcription, DNA-templated positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	6660	20678
Ensembl	ENSG00000134532	ENSMUSG00000041540
UniProt	P35711	P35710
RefSeq (mRNA)	NM_001261414 NM_001261415 NM_006940 NM_152989 NM_178010 NM_001330785	NM_001113559 NM_001243163 NM_011444 NM_001347506
RefSeq (protein)	NP_001248343 NP_001248344 NP_001317714 NP_008871 NP_694534 NP_821078	NP_001107031 NP_001230092 NP_001334435 NP_035574
Location (UCSC)	Chr 12: 23.53 – 24.56 Mb	Chr 6: 143.83 – 144.78 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Transcription factor SOX-5 is a protein that in humans is encoded by the SOX5 gene. ^{[5] [6]}

Function

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. ^[6]

Mutations in the SOX5 gene can cause Lamb-Shaffer syndrome.

See also

• SOX genes

References

1. GRCh38: Ensembl release 89: ENSG00000134532 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000041540 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Wunderle VM, Critcher R, Ashworth A, Goodfellow PN (Sep 1996). "Cloning and characterization of SOX5, a new member of the human SOX gene family". Genomics. 36 (2): 354–8. doi:10.1006/geno.1996.0474. PMID   8812465.
6. "Entrez Gene: SOX5 SRY (sex determining region Y)-box 5".

Further reading

• Kamachi Y, Uchikawa M, Kondoh H (Apr 2000). "Pairing SOX off: with partners in the regulation of embryonic development". Trends in Genetics. 16 (4): 182–7. doi:10.1016/S0168-9525(99)01955-1. PMID   10729834.
• Bowles J, Schepers G, Koopman P (Nov 2000). "Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators". Developmental Biology. 227 (2): 239–55. doi: 10.1006/dbio.2000.9883 . PMID   11071752.
• Wilson M, Koopman P (Aug 2002). "Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators". Current Opinion in Genetics & Development. 12 (4): 441–6. doi:10.1016/S0959-437X(02)00323-4. PMID   12100890.
• Schepers GE, Teasdale RD, Koopman P (Aug 2002). "Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families". Developmental Cell. 3 (2): 167–70. doi: 10.1016/S1534-5807(02)00223-X . PMID   12194848.
• Denny P, Swift S, Brand N, Dabhade N, Barton P, Ashworth A (Jun 1992). "A conserved family of genes related to the testis determining gene, SRY". Nucleic Acids Research. 20 (11): 2887. doi:10.1093/nar/20.11.2887. PMC   336939 . PMID   1614875.
• Connor F, Cary PD, Read CM, Preston NS, Driscoll PC, Denny P, Crane-Robinson C, Ashworth A (Aug 1994). "DNA binding and bending properties of the post-meiotically expressed Sry-related protein Sox-5". Nucleic Acids Research. 22 (16): 3339–46. doi:10.1093/nar/22.16.3339. PMC   523727 . PMID   8078769.
• Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Bonaldo MF, Lennon G, Soares MB (Sep 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID   8889548.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Lefebvre V, Li P, de Crombrugghe B (Oct 1998). "A new long form of Sox5 (L-Sox5), Sox6 and Sox9 are coexpressed in chondrogenesis and cooperatively activate the type II collagen gene". The EMBO Journal. 17 (19): 5718–33. doi:10.1093/emboj/17.19.5718. PMC   1170900 . PMID   9755172.
• Uusitalo H, Hiltunen A, Ahonen M, Gao TJ, Lefebvre V, Harley V, Kähäri VM, Vuorio E (Oct 2001). "Accelerated up-regulation of L-Sox5, Sox6, and Sox9 by BMP-2 gene transfer during murine fracture healing". Journal of Bone and Mineral Research. 16 (10): 1837–45. doi: 10.1359/jbmr.2001.16.10.1837 . PMID   11585348. S2CID   42947355.
• Zafarana G, Gillis AJ, van Gurp RJ, Olsson PG, Elstrodt F, Stoop H, Millán JL, Oosterhuis JW, Looijenga LH (Mar 2002). "Coamplification of DAD-R, SOX5, and EKI1 in human testicular seminomas, with specific overexpression of DAD-R, correlates with reduced levels of apoptosis and earlier clinical manifestation". Cancer Research. 62 (6): 1822–31. PMID   11912161.
• Ikeda T, Zhang J, Chano T, Mabuchi A, Fukuda A, Kawaguchi H, Nakamura K, Ikegawa S (Sep 2002). "Identification and characterization of the human long form of Sox5 (L-SOX5) gene". Gene. 298 (1): 59–68. doi:10.1016/S0378-1119(02)00927-7. PMID   12406576.